title: Missense mutation (I143T) in a Japanese patient with Canavan disease.
authors.affiliation: Department of Inherited Metabolic Disease, National Institute of Neuroscience, NCNP, Tokyo, Japan.
authors.forename: K
authors.initials: K
authors.lastname: Kobayashi
authors.forename: S
authors.initials: S
authors.lastname: Tsujino
authors.forename: T
authors.initials: T
authors.lastname: Ezoe
authors.forename: H
authors.initials: H
authors.lastname: Hamaguchi
authors.forename: K
authors.initials: K
authors.lastname: Nihei
authors.forename: N
authors.initials: N
authors.lastname: Sakuragawa
mesh_terms: D000581:Amidohydrolases / Q000235:genetics*; D019943:Amino Acid Substitution; D001483:Base Sequence; D017825:Canavan Disease / Q000201:enzymology / Q000235:genetics*; D004247:DNA / Q000737:chemistry / Q000235:genetics; D004252:DNA Mutational Analysis; D005192:Family Health; D005260:Female; D006720:Homozygote; D006801:Humans; D007564:Japan; D008297:Male; D020125:Mutation, Missense; D010375:Pedigree
chemical_list: D004247:DNA; D000581:Amidohydrolases; C019751:aspartoacylase